E10K (p.Glu10Lys) variant of NCF4 (Neutrophil cytosol factor 4)
E10K (p.Glu10Lys) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- rs756372095
- ClinGen CA10212796
- ClinVar RCV001233497
- ExAC rs756372095
- Uncertain significance
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.09
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Uncertain significance (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Chronic Granulomatous Disease. (PMID 22876374)